Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
Values are valid only on day of printing. |
First-tier molecular testing for males affected with severe hemophilia A, when a familial intron 22 inversion has been previously identified
Determining hemophilia A carrier status for at-risk females, ie, individuals with a family history of severe hemophilia A due to F8 intron 22 inversion
Detects the intron 22 inversion within the F8 gene. The intron 22 inversion mutation accounts for approximately 45% of mutations associated with severe hemophilia A.
Intron 22 inversion known mutation analysis can only be performed for individuals when an intron 22 inversion has already been identified in the family. If a mutation has not already been identified in the family, order F8INV / Hemophilia A F8 Gene, Intron 1 and 22 Inversion Mutation Analysis, Whole Blood.
Test ID | Reporting Name | Available Separately | Always Performed |
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MATCC | Maternal Cell Contamination, B | Yes | No |
Maternal cell contamination testing will be performed for all cord blood specimens. A maternal whole blood sample with an order for MATCC / Maternal Cell Contamination, Molecular Analysis, Blood is also required to perform this test. (See Specimen Required for more details.)
The following algorithms are available in Special Instructions:
Inverse Shifting-Polymerase Chain Reaction (IS-PCR)